ClinVar Miner

List of variants in gene KRT1 reported as likely benign for diffuse palmoplantar keratoderma

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006121.4(KRT1):c.1511-11T>C rs201036490 0.00012
NM_006121.4(KRT1):c.1912A>G (p.Thr638Ala) rs140098565 0.00009
NM_006121.4(KRT1):c.1475+14G>A rs369324638 0.00006
NM_006121.4(KRT1):c.1527C>T (p.His509=) rs371428130 0.00004
NM_006121.4(KRT1):c.45G>A (p.Gly15=) rs549917182 0.00004
NM_006121.4(KRT1):c.1107C>T (p.Ala369=) rs183980482 0.00002
NM_006121.4(KRT1):c.1482T>C (p.Ser494=) rs181516749 0.00001

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